CFAP52 Chromosome 17
Cilia and flagella associated protein 52
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What This Gene Does
WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"WD repeat domain containing|Cilia and flagella associated"
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000166596
Associated Conditions (8)
Situs inversus
Oculomotor apraxia
Heterotaxy
visceral
10
autosomal
with male infertility
CFAP52-related disorder
Key Variants
RS1360832162
Conflicting classifications of pathogenicity
Situs inversus, Oculomotor apraxia, Heterotaxy
Health Risk
RS139646620
Conflicting classifications of pathogenicity
Situs inversus, CFAP52-related disorder, Situs inversus
Health Risk
RS141646758
Conflicting classifications of pathogenicity
Situs inversus, Situs inversus
Health Risk
RS146845939
Conflicting classifications of pathogenicity
Situs inversus, Situs inversus
Health Risk
RS746987839
Likely pathogenic
Situs inversus, Situs inversus
Health Risk
RS752819814
Likely pathogenic
Health Risk
RS775639416
Likely pathogenic
Heterotaxy, visceral, 10
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1360832162 | Health Risk | Conflicting classifications of pathogenicity | Situs inversus, Oculomotor apraxia, Heterotaxy |
| RS139646620 | Health Risk | Conflicting classifications of pathogenicity | Situs inversus, CFAP52-related disorder, Situs inversus |
| RS141646758 | Health Risk | Conflicting classifications of pathogenicity | Situs inversus, Situs inversus |
| RS146845939 | Health Risk | Conflicting classifications of pathogenicity | Situs inversus, Situs inversus |
| RS746987839 | Health Risk | Likely pathogenic | Situs inversus, Situs inversus |
| RS752819814 | Health Risk | Likely pathogenic | — |
| RS775639416 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 10 |